Medical Mystery: A Genetic Syndrome Scarred This Patient’s Lungs

Private: Hilary J. Goldberg, MD, MPH
Contributor Hilary J. Goldberg, MD, MPH

Medical Mysteries is a column about the diagnosis and treatment of complicated medical cases at Brigham and Women’s Hospital.

An irksome cough

By the time Laurie Chandler, a financial advisor living in New Hampshire, arrived at The Lung Center at Brigham and Women’s Hospital, she needed a lung transplant. Laurie had spent seven years visiting specialists across the country in search of a diagnosis for an “irksome” cough, shortness of breath, fatigue and weight loss.

When she met Hilary J. Goldberg, MD, MPH, medical director, Lung Transplant Program at the Brigham, a program that routinely accepts higher-risk candidates, Laurie had developed end-stage pulmonary fibrosis, a progressive lung disease that scars and stiffens the air sacs within the lungs, making it difficult to breathe.

Laurie Chandler received a double-lung transplant at The Lung Center at Brigham and Women’s Hospital.

A disease of unknown origin, likely caused by the environment

Laurie Chandler
Laurie Chandler received a double-lung transplant at The Lung Center at Brigham and Women’s Hospital.

A year prior, Laurie had visited a hospital in Colorado, where she was diagnosed with hypersensitivity pneumonitis, a disease in which the lungs become inflamed. Her doctors said her failing lungs was likely an environmental condition of unknown origin.

“I was put on the lung transplant list, but I was extremely ill. I had 20 percent lung capacity, and doctors didn’t know if I could survive a transplant. I was basically sent home to put my affairs in order,” said Laurie.

In search of new lungs, and the cause of pulmonary fibrosis

Laurie returned to New Hampshire and immersed herself in online research. The Internet can be a scary place for a person with advanced lung disease, said Laurie.

Laurie found the The Lung Center at the Brigham, a collaboration between the Division of Thoracic Surgery and the Division of Pulmonary and Critical Care Medicine. The Brigham Lung Transplant Program is the largest lung transplant program in New England, and has been steadily growing its transplant volume in recent years.

“When I met Laurie, she had reached end-stage pulmonary fibrosis,” said Dr. Goldberg. “There’s often little we can do to cure or control the disease at that point. “But we were determined the find the cause of her disease and explore all potential treatment options. She was so sick that we had to expedite her transplant evaluation.”

The doctors provided Laurie with useful information, educating her about her illness, answering questions, and addressing her concerns and worries.

A diagnosis at last

As Laurie educated herself, a team of specialists at the Lung Center, including experts in anesthesia, rheumatology, perioperative and pain medicine, pathology, radiology, and pulmonary genetics, investigated the root cause of her illness.

“Specialists at The Lung Center work together instead of individual providers or subspecialties acting independently. This multidisciplinary nature allows us to integrate and expedite cases,” said Dr. Goldberg.

The Eureka moment in Laurie’s case came during a consultation with the Pulmonary Genetics Center at the Brigham, one of the few of its kind in the United States. Benjamin Raby, MD, MPH, director, Pulmonary Genetics Center, and his team used a next-generation sequencing test, known as the PulmoGene Panel, to analyze 64 genes with known associations to inherited lung diseases.

The test revealed that Laurie had a genetic condition that affected her telomeres, the protected caps at the end of DNA, similar to the plastic caps on shoelaces that prevent them from fraying. The diagnosis was short telomere syndrome, where the shortening of telomeres leave DNA vulnerable to bone marrow abnormalities, liver dysfunction and pulmonary fibrosis.

“There wasn’t a cure for short telomere syndrome, and I still needed a lung transplant, but at least I knew what caused my disease,” said Laurie.

A matching set of lungs arrives

It was Christmas Eve when Laurie received a letter from Brigham and Women’s Hospital. It said she was on the lung recipient list. Two weeks later she fell ill, which she called ‘falling off a cliff.’

She was hospitalized at the Brigham, and her condition deteriorated so rapidly that standard ventilator support was insufficient. Doctors induced a medical coma and placed her on extracorporeal membrane oxygenation (ECMO), an intensive care technology that takes over the work of a damaged heart or lungs.

Dr. Goldberg said, “Laurie was so sick that we thought about taking her off the transplant list. Roughly a week after she went on ECMO, however, a matching set of lungs arrived and we gave the lungs to her.”

An opportunity to live

Laurie was prepared for a double-lung transplant. Thoracic surgeons made an incision across the lower part of her chest. Her diseased lungs were removed, and the new lungs were implanted, and connected to the pulmonary arteries, veins, and main airway.

The next day, Laurie woke up and took a deep, healthy breath.

She stayed in the hospital for six weeks, so doctors could make sure her body would not reject her new lungs. She spent another six weeks engaged in physical rehabilitation, then returned home and visited the hospital weekly for monitoring.

Multidisciplinary management of the patient

“Laurie had access to so many support systems under The Lung Center umbrella. I’m proud of how so many physicians worked together to create a multidisciplinary approach to care that resulted in a successful outcome,” said Dr. Goldberg, who refers to this collaborative approach as “communal management of the patient.”

In the last five years, The Lung Transplant Program’s one-year outcomes have exceeded Centers for Medicare & Medicaid Services (CMS) benchmarks, and three-year survival rates have routinely met targeted thresholds. The Program also tripled its volume over a recent two-year period, performing 75 lung transplants last year, and is on pace to perform that amount or more in 2018, according to Dr. Goldberg.

Paying it forward

It’s been four and a half years since Laurie received new lungs. She celebrates two birthdays now. The day she was born, and the day Brigham brought her back to life.

Despite being told that her improvement may plateau after three years, she continues to grow stronger. Now retired, she recently returned from a trip to Italy, where she walked more than she had in years.

Laurie serves as the treasurer of the Pulmonary Fibrosis Foundation, where she uses her financial planning expertise to help impact advocacy, education and research for pulmonary fibrosis. She also serves on the Foundation’s developmental and programs committee, where she mentors patients who suffer from this lung disease.

“It took me seven years to get a diagnosis, so I want to help patients get diagnosed early and start treatment as soon as possible,” said Laurie. “I direct them to The Lung Center at Brigham, where they can get the type of care and attention that saved my life.”

– Dustin G.

Private: Hilary J. Goldberg, MD, MPH
Hilary J. Goldberg, MD, MPH

Hilary J. Goldberg, MD, MPH, is medical director of The Lung Transplant Program at Brigham and Women's Hospital.

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